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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Congenital Muscular Dystrophy with Central Nervous System Involvement
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Accession:DOID:9006181 term browser browse the term
Synonyms:exact_synonym: Muscular dystrophy, congenital progressive, with mental retardation
 primary_id: MESH:C538190
 alt_id: RDO:0004132
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12693
    syndrome 6155
      Walker-Warburg syndrome 33
        Congenital Muscular Dystrophy with Central Nervous System Involvement 1
Path 2
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      nervous system disease 9972
        peripheral nervous system disease 2315
          neuropathy 2154
            neuromuscular disease 1698
              muscular disease 1116
                muscle tissue disease 750
                  atrophic muscular disease 293
                    muscular dystrophy 291
                      congenital muscular dystrophy 70
                        Walker-Warburg syndrome 33
                          Congenital Muscular Dystrophy with Central Nervous System Involvement 1
paths to the root